R67Q (p.Arg67Gln) variant of SLC25A14 (O95258)
R67Q (p.Arg67Gln) in SLC25A14 (O95258) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R67Q (p.Arg67Gln) variant details
- p.Arg67Gln
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99502
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.76
- MetaSVM 0.71
- CADD 28.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available